ClinVar Miner

Variants in gene CDKN2A

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
85 69 538 225 27 19 19 825

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary melanoma 56 23 388 90 11 0 0 565
Hereditary cancer-predisposing syndrome 38 32 254 116 14 0 0 427
not provided 18 8 88 21 11 0 7 145
not specified 0 0 29 57 16 0 12 98
Melanoma-pancreatic cancer syndrome 10 6 32 35 9 0 0 88
Cutaneous malignant melanoma 2 1 0 10 2 0 19 0 32
Squamous cell lung carcinoma 0 9 3 0 0 0 0 12
Malignant melanoma of skin 0 10 0 0 0 0 0 10
Squamous cell carcinoma of the head and neck 0 10 0 0 0 0 0 10
Neoplasm 0 9 0 0 0 0 0 9
Squamous cell carcinoma of the skin 0 9 0 0 0 0 0 9
Adenocarcinoma of stomach 0 7 0 0 0 0 0 7
Pancreatic adenocarcinoma 0 7 0 0 0 0 0 7
Hepatocellular carcinoma 0 4 0 0 1 0 0 5
Lung adenocarcinoma 0 5 0 0 0 0 0 5
Transitional cell carcinoma of the bladder 0 5 0 0 0 0 0 5
Melanoma 1 2 1 0 0 0 0 4
Melanoma-pancreatic cancer syndrome; Cutaneous malignant melanoma 2; Melanoma and neural system tumor syndrome 2 0 2 0 0 0 0 4
Lip and oral cavity carcinoma 2 1 0 0 0 0 0 3
Neoplasm of the large intestine 0 3 0 0 0 0 0 3
Melanoma and neural system tumor syndrome 1 1 0 0 0 0 0 2
Adenocarcinoma of prostate 0 1 0 0 0 0 0 1
Carcinoma of esophagus 0 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 0 1
Osteoblastic osteosarcoma 0 0 1 0 0 0 0 1
Papillary renal cell carcinoma, sporadic 0 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 1
none provided 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 55 21 388 92 11 0 0 565
Ambry Genetics 30 29 169 66 6 0 0 300
Color Health, Inc 17 7 153 81 13 0 0 271
GeneDx 22 6 65 53 7 0 0 153
Counsyl 4 3 23 20 6 0 0 56
Integrated Genetics/Laboratory Corporation of America 4 3 26 12 5 0 0 50
Quest Diagnostics Nichols Institute San Juan Capistrano 3 2 24 8 14 0 0 46
Mendelics 1 2 16 17 5 0 0 41
PreventionGenetics, PreventionGenetics 0 1 9 7 7 0 0 24
OMIM 4 0 0 0 0 19 0 21
Database of Curated Mutations (DoCM) 0 19 0 0 0 0 0 19
ITMI 0 0 0 0 0 0 12 12
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 6 2 0 0 0 11
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 7 0 2 0 0 9
True Health Diagnostics 0 0 2 2 2 0 0 6
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 5 1 0 0 0 0 0 6
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 6 6
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 3 3 0 0 0 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 0 1 2 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 2 0 1 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 1 0 0 3
University of Washington Department of Laboratory Medicine, University of Washington 1 0 1 1 0 0 0 3
Institute of Medical Sciences, Banaras Hindu University 2 1 0 0 0 0 0 3
GeneKor MSA 0 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 1

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